Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ITGB2 Gene

Aliases for ITGB2 Gene

  • Integrin Subunit Beta 2 2 3 5
  • Integrin, Beta 2 (Complement Component 3 Receptor 3 And 4 Subunit) 2 3
  • Complement Component 3 Receptor 3 And 4 Subunit 2 3
  • CD18 3 4
  • MFI7 3 4
  • Integrin, Beta 2 (Antigen CD18 (P95), Lymphocyte Function-Associated Antigen 1; Macrophage Antigen 1 (Mac-1) Beta Subunit) 2
  • Cell Surface Adhesion Glycoprotein (LFA-1/CR3/P150,959 Beta Subunit Precursor) 3
  • Cell Surface Adhesion Glycoproteins LFA-1/CR3/P150,95 Subunit Beta 4
  • Leukocyte-Associated Antigens CD18/11A, CD18/11B, CD18/11C 3
  • Leukocyte Cell Adhesion Molecule CD18 3
  • Complement Receptor C3 Beta-Subunit 3
  • Complement Receptor C3 Subunit Beta 4
  • Integrin Beta Chain, Beta 2 3
  • Integrin Beta-2 3
  • CD18 Antigen 4
  • LFA-1 3
  • MAC-1 3
  • LCAMB 3
  • MF17 3
  • LAD 3

External Ids for ITGB2 Gene

Previous HGNC Symbols for ITGB2 Gene

  • CD18
  • MFI7

Previous GeneCards Identifiers for ITGB2 Gene

  • GC21M042815
  • GC21M045162
  • GC21M045130
  • GC21M046305
  • GC21M031679

Summaries for ITGB2 Gene

Entrez Gene Summary for ITGB2 Gene

  • This gene encodes an integrin beta chain, which combines with multiple different alpha chains to form different integrin heterodimers. Integrins are integral cell-surface proteins that participate in cell adhesion as well as cell-surface mediated signalling. The encoded protein plays an important role in immune response and defects in this gene cause leukocyte adhesion deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

GeneCards Summary for ITGB2 Gene

ITGB2 (Integrin Subunit Beta 2) is a Protein Coding gene. Diseases associated with ITGB2 include Leukocyte Adhesion Deficiency, Type I and Leukocyte Adhesion Deficiency, Type Iii. Among its related pathways are Cytokine Signaling in Immune system and Complement and coagulation cascades. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity and receptor activity. An important paralog of this gene is ITGB7.

UniProtKB/Swiss-Prot for ITGB2 Gene

  • Integrin ITGAL/ITGB2 is a receptor for ICAM1, ICAM2, ICAM3 and ICAM4. Integrins ITGAM/ITGB2 and ITGAX/ITGB2 are receptors for the iC3b fragment of the third complement component and for fibrinogen. Integrin ITGAX/ITGB2 recognizes the sequence G-P-R in fibrinogen alpha-chain. Integrin ITGAM/ITGB2 recognizes P1 and P2 peptides of fibrinogen gamma chain. Integrin ITGAM/ITGB2 is also a receptor for factor X. Integrin ITGAD/ITGB2 is a receptor for ICAM3 and VCAM1. Contributes to natural killer cell cytotoxicity (PubMed:15356110). Involved in leukocyte adhesion and transmigration of leukocytes including T-cells and neutrophils (PubMed:11812992, PubMed:28807980). Triggers neutrophil transmigration during lung injury through PTK2B/PYK2-mediated activation (PubMed:18587400). Integrin ITGAL/ITGB2 in association with ICAM3, contributes to apoptotic neutrophil phagocytosis by macrophages (PubMed:23775590). In association with alpha subunit ITGAM/CD11b, required for CD177-PRTN3-mediated activation of TNF primed neutrophils (PubMed:21193407).

Gene Wiki entry for ITGB2 Gene

Additional gene information for ITGB2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ITGB2 Gene

Genomics for ITGB2 Gene

GeneHancer (GH) Regulatory Elements for ITGB2 Gene

Promoters and enhancers for ITGB2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH21I044916 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 556.1 +7.4 7375 16.8 HDGF PKNOX1 CLOCK SMAD1 NEUROD1 SIN3A FEZF1 ZBTB7B IRF4 ZNF207 ITGB2 POFUT2 UBE2G2 ENSG00000273027 TRPM2 ENSG00000184441 PTTG1IP ITGB2-AS1 ENSG00000215447 C21orf2
GH21I044865 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 14.3 +61.4 61381 11.1 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 PTTG1IP ENSG00000184441 ITGB2 ENSG00000215447 PWP2 POFUT2 C21orf2 UBE2G2 TRPM2 PIR60294
GH21I044966 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 9.9 -36.8 -36823 4.6 ATF1 BRCA1 ETS1 YY1 TCF12 GLIS2 GATA2 ATF7 RXRA ZHX2 ENSG00000273027 ITGB2 LINC01547 FAM207A ITGB2-AS1 POFUT2 ENSG00000276529
GH21I044909 Enhancer 1.4 Ensembl ENCODE dbSUPER 11.2 +19.1 19144 6.7 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A YY1 ZNF207 ZNF143 MCM5 UBE2G2 LINC01547 ITGB2 TRPM2 PTTG1IP ITGB2-AS1
GH21I044907 Enhancer 1 Ensembl ENCODE dbSUPER 13.1 +24.0 23963 2 CEBPB EBF1 RAD21 RELA ZFP69B ZGPAT ZNF692 VEZF1 IKZF1 IKZF2 ITGB2 ITGB2-AS1 PTTG1IP
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ITGB2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ITGB2 gene promoter:

Genomic Locations for ITGB2 Gene

Genomic Locations for ITGB2 Gene
chr21:44,885,949-44,931,989
(GRCh38/hg38)
Size:
46,041 bases
Orientation:
Minus strand
chr21:46,305,868-46,351,904
(GRCh37/hg19)

Genomic View for ITGB2 Gene

Genes around ITGB2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ITGB2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ITGB2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ITGB2 Gene

Proteins for ITGB2 Gene

  • Protein details for ITGB2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P05107-ITB2_HUMAN
    Recommended name:
    Integrin beta-2
    Protein Accession:
    P05107
    Secondary Accessions:
    • B3KTS8
    • D3DSM1
    • Q16418
    • Q53HS5
    • Q9UD72

    Protein attributes for ITGB2 Gene

    Size:
    769 amino acids
    Molecular mass:
    84782 Da
    Quaternary structure:
    • Heterodimer of an alpha and a beta subunit (PubMed:20033057). ITGB2 associates with either ITGAL, ITGAM, ITGAX or ITGAD. Found in a complex with CD177 and ITGAM/CD11b (PubMed:21193407, PubMed:28807980). Interacts with FGR (By similarity). Interacts with COPS5 and RANBP9 (PubMed:10766246, PubMed:14722085). Interacts with FLNA (via filamin repeats 4, 9, 12, 17, 19, 21, and 23) (PubMed:19828450). Interacts with THBD (PubMed:27055590).
    SequenceCaution:
    • Sequence=BAD96225.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ITGB2 Gene

neXtProt entry for ITGB2 Gene

Post-translational modifications for ITGB2 Gene

  • Both Ser-745 and Ser-756 become phosphorylated when T-cells are exposed to phorbol esters (PubMed:11700305). Phosphorylation on Thr-758 (but not on Ser-756) allows interaction with 14-3-3 proteins (PubMed:11700305, PubMed:16301335).
  • Ubiquitination at isoforms=362, posLast=379379, isoforms=462, posLast=479479, isoforms=561, isoforms=658, posLast=744744, isoforms=755, and isoforms=765
  • Glycosylation at isoforms=50, isoforms=116, isoforms=212, posLast=213213, isoforms=215, isoforms=254, isoforms=501, and posLast=642642
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for ITGB2 (Integrin beta 2/CD18)
  • Abcam antibodies for ITGB2

No data available for DME Specific Peptides for ITGB2 Gene

Domains & Families for ITGB2 Gene

Gene Families for ITGB2 Gene

HGNC:
Human Protein Atlas (HPA):
  • CD markers
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for ITGB2 Gene

Graphical View of Domain Structure for InterPro Entry

P05107

UniProtKB/Swiss-Prot:

ITB2_HUMAN :
  • Belongs to the integrin beta chain family.
Family:
  • Belongs to the integrin beta chain family.
genes like me logo Genes that share domains with ITGB2: view

Function for ITGB2 Gene

Molecular function for ITGB2 Gene

GENATLAS Biochemistry:
integrin,beta 2,cell surface adhesion receptor mediating cell-adhesion to extra cellular matrix or to other cells,through hetero dimerization and connecting to the cytoskeleton and various signaling molecules within cells,expressed in leukocytes,common component of LFA-1,Mac-1 and p150,95 antigens
UniProtKB/Swiss-Prot Function:
Integrin ITGAL/ITGB2 is a receptor for ICAM1, ICAM2, ICAM3 and ICAM4. Integrins ITGAM/ITGB2 and ITGAX/ITGB2 are receptors for the iC3b fragment of the third complement component and for fibrinogen. Integrin ITGAX/ITGB2 recognizes the sequence G-P-R in fibrinogen alpha-chain. Integrin ITGAM/ITGB2 recognizes P1 and P2 peptides of fibrinogen gamma chain. Integrin ITGAM/ITGB2 is also a receptor for factor X. Integrin ITGAD/ITGB2 is a receptor for ICAM3 and VCAM1. Contributes to natural killer cell cytotoxicity (PubMed:15356110). Involved in leukocyte adhesion and transmigration of leukocytes including T-cells and neutrophils (PubMed:11812992, PubMed:28807980). Triggers neutrophil transmigration during lung injury through PTK2B/PYK2-mediated activation (PubMed:18587400). Integrin ITGAL/ITGB2 in association with ICAM3, contributes to apoptotic neutrophil phagocytosis by macrophages (PubMed:23775590). In association with alpha subunit ITGAM/CD11b, required for CD177-PRTN3-mediated activation of TNF primed neutrophils (PubMed:21193407).

Gene Ontology (GO) - Molecular Function for ITGB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001540 amyloid-beta binding ISS --
GO:0001851 complement component C3b binding ISS --
GO:0004872 receptor activity IEA --
GO:0005515 protein binding IPI 16831868
GO:0019901 protein kinase binding IPI 12885943
genes like me logo Genes that share ontologies with ITGB2: view
genes like me logo Genes that share phenotypes with ITGB2: view

Human Phenotype Ontology for ITGB2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ITGB2 Gene

MGI Knock Outs for ITGB2:

miRNA for ITGB2 Gene

miRTarBase miRNAs that target ITGB2

Clone Products

  • Addgene plasmids for ITGB2
  • R&D Systems cDNA Clones for ITGB2 (Integrin beta 2/CD18)

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for ITGB2 Gene

Localization for ITGB2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ITGB2 Gene

Cell membrane; Single-pass type I membrane protein. Membrane raft; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ITGB2 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ITGB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0008305 integrin complex NAS 12885943
GO:0009897 external side of plasma membrane NAS 20199584
GO:0009986 cell surface IDA 19029120
GO:0016020 membrane IEA,HDA 19946888
genes like me logo Genes that share ontologies with ITGB2: view

Pathways & Interactions for ITGB2 Gene

genes like me logo Genes that share pathways with ITGB2: view

Pathways by source for ITGB2 Gene

SIGNOR curated interactions for ITGB2 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for ITGB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002523 leukocyte migration involved in inflammatory response IEA --
GO:0006909 phagocytosis IEA --
GO:0006911 phagocytosis, engulfment ISS --
GO:0006915 apoptotic process NAS 12885943
GO:0006954 inflammatory response NAS 12885943
genes like me logo Genes that share ontologies with ITGB2: view

Drugs & Compounds for ITGB2 Gene

(63) Drugs for ITGB2 Gene - From: DrugBank, ApexBio, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Simvastatin Approved Pharma Competitive, Inhibitor, Target, other HMG-CoA reductase inhibitor 537
Leukadherin 1 Pharma CD11b/CD18 activator 0
SAR 1118 Pharma 0

(53) Additional Compounds for ITGB2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for ITGB2 Gene

Compound Action Cas Number
Leukadherin 1 CD11b/CD18 activator 344897-95-6
genes like me logo Genes that share compounds with ITGB2: view

Drug Products

Transcripts for ITGB2 Gene

Unigene Clusters for ITGB2 Gene

Integrin, beta 2 (complement component 3 receptor 3 and 4 subunit):
Representative Sequences:

Clone Products

  • Addgene plasmids for ITGB2
  • R&D Systems cDNA Clones for ITGB2 (Integrin beta 2/CD18)

Alternative Splicing Database (ASD) splice patterns (SP) for ITGB2 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d · 2e · 2f · 2g ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b ^ 10a · 10b · 10c · 10d ^ 11 ^
SP1: - - - - - - - - -
SP2: - - - - - - - - - - - - - - - -
SP3: - - - - - - - - - -
SP4: - - - - - - - - - -
SP5: - - - - - -
SP6: - - - - - - -
SP7:
SP8: - - - - - - - - - -
SP9: - - - - - - - - -
SP10: - - - - - - - -
SP11: - - - - - - - -
SP12: - - - - - - -
SP13: - - - - - - - -
SP14: - - - -
SP15: - - - - - - - - -
SP16: - - - - - -
SP17: - - - - - - -
SP18: - - - -
SP19: - - - - - - - - - - - - - - - -
SP20: - - -
SP21:
SP22:

ExUns: 12a · 12b · 12c · 12d ^ 13a · 13b · 13c · 13d · 13e ^ 14a · 14b ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22 ^ 23a · 23b · 23c
SP1: - - -
SP2: - - -
SP3: - - -
SP4: - - - - - - -
SP5: - - -
SP6: -
SP7: -
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14: -
SP15:
SP16:
SP17:
SP18: -
SP19:
SP20:
SP21:
SP22:

Relevant External Links for ITGB2 Gene

GeneLoc Exon Structure for
ITGB2
ECgene alternative splicing isoforms for
ITGB2

Expression for ITGB2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ITGB2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ITGB2 Gene

This gene is overexpressed in Whole Blood (x31.4).

Protein differential expression in normal tissues from HIPED for ITGB2 Gene

This gene is overexpressed in Neutrophil (20.6), Monocytes (10.0), and Nasal epithelium (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ITGB2 Gene



Protein tissue co-expression partners for ITGB2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ITGB2 Gene:

ITGB2

SOURCE GeneReport for Unigene cluster for ITGB2 Gene:

Hs.375957

mRNA Expression by UniProt/SwissProt for ITGB2 Gene:

P05107-ITB2_HUMAN
Tissue specificity: Leukocytes (PubMed:23775590). Expressed in neutrophils (at protein level) (PubMed:21193407, PubMed:28807980).

Evidence on tissue expression from TISSUES for ITGB2 Gene

  • Blood(5)
  • Spleen(4.9)
  • Bone marrow(4.6)
  • Liver(4.3)
  • Muscle(4.3)
  • Nervous system(3.8)
  • Lung(3.3)
  • Lymph node(2.8)
  • Intestine(2.4)
  • Heart(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ITGB2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • digestive
  • immune
  • skeleton
Regions:
Head and neck:
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • skull
  • tooth
Pelvis:
  • anus
  • rectum
General:
  • blood
  • white blood cell
genes like me logo Genes that share expression patterns with ITGB2: view

Orthologs for ITGB2 Gene

This gene was present in the common ancestor of animals.

Orthologs for ITGB2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ITGB2 33 34
  • 98.74 (n)
dog
(Canis familiaris)
Mammalia ITGB2 33 34
  • 83.58 (n)
cow
(Bos Taurus)
Mammalia ITGB2 33 34
  • 83.56 (n)
mouse
(Mus musculus)
Mammalia Itgb2 33 16 34
  • 80.98 (n)
Itgb2l 34
  • 57 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Itgb2 33
  • 80.65 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ITGB2 34
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ITGB2 34
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves ITGB2 33 34
  • 67.83 (n)
lizard
(Anolis carolinensis)
Reptilia ITGB2 34
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia itgb2 33
  • 59.34 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC69035 33
zebrafish
(Danio rerio)
Actinopterygii itgb2 33 34
  • 55.83 (n)
fruit fly
(Drosophila melanogaster)
Insecta mys 35 34
  • 39 (a)
bgrInt-ngr 35
  • 32 (a)
worm
(Caenorhabditis elegans)
Secernentea pat-3 35 34
  • 38 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.871 34
  • 33 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3595 33
Species where no ortholog for ITGB2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ITGB2 Gene

ENSEMBL:
Gene Tree for ITGB2 (if available)
TreeFam:
Gene Tree for ITGB2 (if available)

Paralogs for ITGB2 Gene

Variants for ITGB2 Gene

Sequence variations from dbSNP and Humsavar for ITGB2 Gene

SNP ID Clin Chr 21 pos Variation AA Info Type
rs1042297437 uncertain-significance, Leukocyte adhesion deficiency 44,920,856(-) C/T 5_prime_UTR_variant, intron_variant
rs11088969 not-provided, benign, Leukocyte adhesion deficiency type 1, Leukocyte adhesion deficiency 44,910,759(-) C/A 5_prime_UTR_variant, coding_sequence_variant, synonymous_variant
rs114479227 benign, Leukocyte adhesion deficiency type 1 44,889,969(-) C/T intron_variant
rs1160263 uncertain-significance, benign, Leukocyte adhesion deficiency 44,886,223(-) G/A/T 3_prime_UTR_variant
rs137852609 pathogenic, Leukocyte adhesion deficiency, Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920] 44,889,376(-) G/A coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for ITGB2 Gene

Variant ID Type Subtype PubMed ID
dgv536n27 CNV gain 19166990
dgv7893n54 CNV loss 21841781
esv1002263 CNV deletion 20482838
esv1200103 CNV deletion 17803354
esv2673395 CNV deletion 23128226
esv2723691 CNV deletion 23290073
esv2723692 CNV deletion 23290073
esv2723693 CNV deletion 23290073
esv2723696 CNV deletion 23290073
esv3347085 CNV duplication 20981092
esv3568216 CNV loss 25503493
esv3568217 CNV loss 25503493
esv3575398 CNV gain 25503493
esv3647136 CNV loss 21293372
esv3647138 CNV loss 21293372
nsv1058550 CNV loss 25217958
nsv187072 CNV insertion 16902084
nsv459301 CNV loss 19166990
nsv459302 CNV loss 19166990
nsv470907 CNV gain 18288195
nsv470908 CNV loss 18288195
nsv516593 CNV loss 19592680
nsv587814 CNV gain 21841781
nsv587817 CNV loss 21841781
nsv817935 CNV loss 17921354
nsv834110 CNV loss 17160897
nsv953648 CNV deletion 24416366

Variation tolerance for ITGB2 Gene

Residual Variation Intolerance Score: 15.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.32; 41.42% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ITGB2 Gene

Human Gene Mutation Database (HGMD)
ITGB2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ITGB2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ITGB2 Gene

Disorders for ITGB2 Gene

MalaCards: The human disease database

(18) MalaCards diseases for ITGB2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search ITGB2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ITB2_HUMAN
  • Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920]: LAD1 patients have recurrent bacterial infections and their leukocytes are deficient in a wide range of adhesion-dependent functions. {ECO:0000269 PubMed:1346613, ECO:0000269 PubMed:1347532, ECO:0000269 PubMed:1352501, ECO:0000269 PubMed:1590804, ECO:0000269 PubMed:1694220, ECO:0000269 PubMed:1968911, ECO:0000269 PubMed:20529581, ECO:0000269 PubMed:20549317, ECO:0000269 PubMed:7509236, ECO:0000269 PubMed:7686755, ECO:0000269 PubMed:9884339}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for ITGB2 Gene

bacterial,recurrent,severe life-threatening infections,chronic neutrophilia,and impaired wound healing associated with gingivoperiodontitis and lack of pus formation,leukocyte adhesion deficiency

Additional Disease Information for ITGB2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ITGB2: view

Publications for ITGB2 Gene

  1. The ITGB2 immunomodulatory gene (CD18), enterocolitis, and Hirschsprung's disease. (PMID: 18675632) Moore SW … Zaahl MG (Journal of pediatric surgery 2008) 3 22 44 58
  2. A prospective evaluation of the CD14 and CD18 gene polymorphisms and risk of stroke. (PMID: 11935032) Zee RY … Ridker PM (Stroke 2002) 3 22 44 58
  3. A novel leukocyte adhesion deficiency caused by expressed but nonfunctional beta2 integrins Mac-1 and LFA-1. (PMID: 9884339) Hogg N … Klein N (The Journal of clinical investigation 1999) 3 4 22 58
  4. Molecular basis for a severe case of leukocyte adhesion deficiency. (PMID: 1352501) Corbí AL … Sánchez-Madrid F (European journal of immunology 1992) 3 4 22 58
  5. CD177 modulates human neutrophil migration through activation-mediated integrin and chemoreceptor regulation. (PMID: 28807980) Bai M … Nigrovic PA (Blood 2017) 3 4 58

Products for ITGB2 Gene

  • Addgene plasmids for ITGB2